Canonical Allele Identifier: CA173006

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46397393C>G , CM000683.2:g.46397393C>G	GRCh38
NC_000021.8:g.47817307C>G , CM000683.1:g.47817307C>G	GRCh37
NC_000021.7:g.46641735C>G	NCBI36
NG_008961.1:g.78272C>G
NG_008961.2:g.78272C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695558.1:c.4378C>G	ENSP00000512015.1:p.Gln1460Glu
ENST00000703224.1:c.*3588C>G	ENSP00000515242.1:n.*3588C>G
ENST00000359568.10:c.4345C>G MANE Select	ENSP00000352572.5:p.Gln1449Glu
ENST00000359568.9:c.4345C>G	ENSP00000352572.5:p.Gln1449Glu
ENST00000480896.5:n.4614C>G
NM_001315529.1:c.3991C>G	NP_001302458.1:p.Gln1331Glu
NM_006031.5:c.4345C>G	NP_006022.3:p.Gln1449Glu
XM_005261124.3:c.4378C>G	XP_005261181.1:p.Gln1460Glu
XM_011529593.1:c.4459C>G	XP_011527895.1:p.Gln1487Glu
XM_011529594.1:c.4426C>G	XP_011527896.1:p.Gln1476Glu
XM_005261124.5:c.4378C>G	XP_005261181.1:p.Gln1460Glu
XM_011529594.3:c.4426C>G	XP_011527896.1:p.Gln1476Glu
XM_017028362.2:c.4345C>G	XP_016883851.1:p.Gln1449Glu
XM_017028363.1:c.4024C>G	XP_016883852.1:p.Gln1342Glu
XM_024452082.1:c.3262C>G	XP_024307850.1:p.Gln1088Glu
XM_024452083.1:c.2158C>G	XP_024307851.1:p.Gln720Glu
NM_006031.6:c.4345C>G MANE Select	NP_006022.3:p.Gln1449Glu
NM_001315529.2:c.3991C>G	NP_001302458.1:p.Gln1331Glu